Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Dnaaf3'

503840

Institutional Source

Beutler Lab

Gene Symbol

Dnaaf3

Ensembl Gene

ENSMUSG00000055809

Gene Name

dynein, axonemal assembly factor 3

Synonyms

6030429G01Rik, b2b1739Clo

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.440) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4525932-4535452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4526671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 469 (S469T)

Ref Sequence

ENSEMBL: ENSMUSP00000092498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094897] [ENSMUST00000098859] [ENSMUST00000140424] [ENSMUST00000154913] [ENSMUST00000209148]

AlphaFold

Q3UYV8

Predicted Effect

probably benign
Transcript: ENSMUST00000094897
AA Change: S469T

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092498
Gene: ENSMUSG00000055809
AA Change: S469T

Domain	Start	End	E-Value	Type
Pfam:DUF4470	16	122	1.3e-27	PFAM
Pfam:DUF4471	154	436	5.3e-104	PFAM
internal_repeat_1	467	512	1.63e-5	PROSPERO
internal_repeat_1	525	568	1.63e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000098859

SMART Domains

Protein: ENSMUSP00000096458
Gene: ENSMUSG00000035458

Domain	Start	End	E-Value	Type
Pfam:Troponin-I_N	1	32	1e-10	PFAM
Pfam:Troponin	47	178	3.6e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132621

Predicted Effect

probably benign
Transcript: ENSMUST00000140424

SMART Domains

Protein: ENSMUSP00000115015
Gene: ENSMUSG00000035458

Domain	Start	End	E-Value	Type
Pfam:Troponin-I_N	1	32	1.1e-14	PFAM
Pfam:Troponin	47	125	3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154913

SMART Domains

Protein: ENSMUSP00000122916
Gene: ENSMUSG00000035458

Domain	Start	End	E-Value	Type
Pfam:Troponin-I_N	1	32	9e-15	PFAM
Pfam:Troponin	47	112	1.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205662

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies and immotile respiratory cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,728,730 (GRCm39)	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 48,910,134 (GRCm39)	N766K	probably benign	Het
Adam15	A	C	3: 89,251,190 (GRCm39)	I505S	probably benign	Het
Apc2	T	C	10: 80,142,254 (GRCm39)	M391T	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bclaf1	A	G	10: 20,210,374 (GRCm39)	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,216,021 (GRCm39)	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,724,863 (GRCm39)		probably null	Het
Ddhd1	A	G	14: 45,851,633 (GRCm39)	L141P	probably damaging	Het
Dzip3	A	T	16: 48,778,828 (GRCm39)	M323K	possibly damaging	Het
Eci2	T	A	13: 35,177,048 (GRCm39)		probably null	Het
Fam227b	A	T	2: 125,968,882 (GRCm39)	V64E	probably damaging	Het
Galnt2	A	G	8: 125,070,054 (GRCm39)	I524V	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm3443	T	A	19: 21,533,110 (GRCm39)	S25T	probably damaging	Het
Gpr22	T	A	12: 31,761,616 (GRCm39)	K14*	probably null	Het
Grip1	T	C	10: 119,822,251 (GRCm39)	S405P	possibly damaging	Het
Helz2	T	C	2: 180,877,738 (GRCm39)	H1020R	probably damaging	Het
Helz2	C	A	2: 180,874,087 (GRCm39)	V2136L	probably benign	Het
Il36rn	G	A	2: 24,167,502 (GRCm39)		probably benign	Het
Iqsec1	T	A	6: 90,666,617 (GRCm39)	S607C	probably damaging	Het
Irag1	G	A	7: 110,476,112 (GRCm39)	T819M	probably benign	Het
Klhl2	A	T	8: 65,205,801 (GRCm39)	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,168,645 (GRCm39)	I595V	unknown	Het
Large2	T	C	2: 92,200,981 (GRCm39)	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,009,881 (GRCm39)	Y122H	probably damaging	Het
Map1b	A	T	13: 99,569,714 (GRCm39)	D1002E	unknown	Het
Mink1	C	T	11: 70,489,720 (GRCm39)	T59I	possibly damaging	Het
Myo7b	T	C	18: 32,092,507 (GRCm39)	N2097D	probably benign	Het
Nbea	C	A	3: 55,535,905 (GRCm39)	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,490,257 (GRCm39)	V490E	probably damaging	Het
Or2w1b	G	A	13: 21,300,401 (GRCm39)	E180K	probably damaging	Het
Or2y3	A	G	17: 38,393,620 (GRCm39)	M83T	probably damaging	Het
Or4c123	G	T	2: 89,127,306 (GRCm39)	H103N	probably damaging	Het
Or4f62	T	C	2: 111,986,701 (GRCm39)	I135T	probably damaging	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Pctp	A	G	11: 89,878,144 (GRCm39)	I130T	probably benign	Het
Pdcl3	T	C	1: 39,027,152 (GRCm39)		probably null	Het
Pheta2	T	A	15: 82,227,917 (GRCm39)	H145Q	probably benign	Het
Pira12	A	T	7: 3,897,031 (GRCm39)	S602T	possibly damaging	Het
Pkp1	T	C	1: 135,807,646 (GRCm39)	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,898,992 (GRCm39)	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,430 (GRCm39)	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,098,823 (GRCm39)	Y712H	probably damaging	Het
Prune2	T	C	19: 17,098,926 (GRCm39)	S1477P	probably benign	Het
Psma5	A	G	3: 108,187,118 (GRCm39)	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,106,286 (GRCm39)	A284P	probably benign	Het
Samsn1	G	A	16: 75,742,162 (GRCm39)		noncoding transcript	Het
Scel	A	G	14: 103,809,478 (GRCm39)	T273A	probably benign	Het
Slc22a5	T	A	11: 53,782,444 (GRCm39)		probably benign	Het
Slc25a37	A	T	14: 69,486,953 (GRCm39)	M110K	possibly damaging	Het
Slc6a2	A	T	8: 93,708,609 (GRCm39)	M242L	probably benign	Het
Slc8a3	C	A	12: 81,246,341 (GRCm39)	W904L	probably benign	Het
Ss18l1	G	A	2: 179,696,905 (GRCm39)	V109I	probably benign	Het
Tbx5	C	T	5: 119,991,663 (GRCm39)	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,360,342 (GRCm39)	L244F	probably damaging	Het
Tmem107	T	A	11: 68,962,241 (GRCm39)	V66E	probably damaging	Het
Tnr	T	C	1: 159,715,884 (GRCm39)	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,781,733 (GRCm39)	V340A	possibly damaging	Het
Veph1	T	C	3: 66,162,481 (GRCm39)	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,449,983 (GRCm39)	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,610 (GRCm39)	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,818,436 (GRCm39)	E620G	probably benign	Het
Zfp418	A	G	7: 7,185,627 (GRCm39)	H530R	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,581 (GRCm39)	A10T	possibly damaging	Het

Other mutations in Dnaaf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02197:Dnaaf3	APN	7	4,530,496 (GRCm39)	missense	probably damaging	1.00
IGL02319:Dnaaf3	APN	7	4,526,946 (GRCm39)	missense	probably damaging	1.00
IGL02805:Dnaaf3	APN	7	4,526,704 (GRCm39)	missense	possibly damaging	0.64
R1818:Dnaaf3	UTSW	7	4,526,569 (GRCm39)	missense	probably benign	0.35
R1818:Dnaaf3	UTSW	7	4,526,568 (GRCm39)	splice site	probably null
R2063:Dnaaf3	UTSW	7	4,526,798 (GRCm39)	missense	possibly damaging	0.87
R2064:Dnaaf3	UTSW	7	4,526,798 (GRCm39)	missense	possibly damaging	0.87
R2066:Dnaaf3	UTSW	7	4,526,798 (GRCm39)	missense	possibly damaging	0.87
R2068:Dnaaf3	UTSW	7	4,526,798 (GRCm39)	missense	possibly damaging	0.87
R2132:Dnaaf3	UTSW	7	4,526,800 (GRCm39)	missense	probably benign	0.00
R2363:Dnaaf3	UTSW	7	4,535,276 (GRCm39)	critical splice acceptor site	probably null
R4710:Dnaaf3	UTSW	7	4,529,493 (GRCm39)	missense	probably damaging	1.00
R4803:Dnaaf3	UTSW	7	4,529,903 (GRCm39)	missense	probably benign	0.14
R4939:Dnaaf3	UTSW	7	4,530,144 (GRCm39)	missense	probably damaging	1.00
R5487:Dnaaf3	UTSW	7	4,526,864 (GRCm39)	splice site	probably null
R5846:Dnaaf3	UTSW	7	4,526,686 (GRCm39)	missense	possibly damaging	0.73
R6084:Dnaaf3	UTSW	7	4,527,212 (GRCm39)	missense	probably benign	0.00
R6576:Dnaaf3	UTSW	7	4,526,379 (GRCm39)	missense	probably benign	0.41
R6916:Dnaaf3	UTSW	7	4,530,532 (GRCm39)	missense	probably damaging	1.00
R7219:Dnaaf3	UTSW	7	4,531,076 (GRCm39)	missense	probably damaging	1.00
R8399:Dnaaf3	UTSW	7	4,526,936 (GRCm39)	critical splice donor site	probably null
R8678:Dnaaf3	UTSW	7	4,533,814 (GRCm39)	missense	probably damaging	1.00
R9515:Dnaaf3	UTSW	7	4,531,100 (GRCm39)	missense	probably damaging	1.00
Z1088:Dnaaf3	UTSW	7	4,526,794 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TACAGGCAGGACTAGCTTAGC -3'
(R):5'- CCAAGGAGTTGAAGGCGTTC -3'

Sequencing Primer
(F):5'- CAGCTTTGGATGGGCTCAAC -3'
(R):5'- CTCTGACCGCGTTGTAGAGATAGC -3'

Posted On

2018-02-27